The Spectrum of Niemann-Pick Type C Disease in Greece

Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endoso...

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Bibliografske podrobnosti
izdano v:JIMD Rep
Main Authors: Mavridou, Irene, Dimitriou, Evangelia, Vanier, Marie T., Vilageliu, Lluisa, Grinberg, Daniel, Latour, Philippe, Xaidara, Athina, Lycopoulou, Lilia, Bostantjopoulou, Sevasti, Zafeiriou, Dimitrios, Michelakakis, Helen
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2017
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5680277/
https://ncbi.nlm.nih.gov/pubmed/28105569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_41
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